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Turcot syndrome(CMMRDS)

MedGen UID:
78553
•Concept ID:
C0265325
•
Disease or Syndrome
Synonyms: Constitutional mismatch repair deficiency syndrome; Mismatch repair cancer syndrome
SNOMED CT: Turcot syndrome (61665008); Turcot's syndrome (61665008)
 
Related genes: PMS2, MSH2, MLH1, MSH6
 
Monarch Initiative: MONDO:0031219
OMIM®: 276300
OMIM® Phenotypic series: PS276300

Definition

An autosomal dominant hereditary neoplastic syndrome caused by mutations in the PMS2, MLH1, MSH2, or APC genes. There are two types described, type 1, characterized by the presence of glioblastoma and often associated with hereditary nonpolyposis colorectal carcinoma, and type 2, characterized by the presence of medulloblastoma and familiar adenomatous polyposis. [from NCI]

Professional guidelines

PubMed

A contemporary review of molecular candidates for the development and treatment of childhood medulloblastoma.
Sümer-Turanlıgil NC, Cetin EÖ, Uyanıkgil Y
Childs Nerv Syst 2013 Mar;29(3):381-8. Epub 2013 Jan 6 doi: 10.1007/s00381-012-2014-3. PMID: 23292496
Gardner syndrome: skin manifestations, differential diagnosis and management.
Juhn E, Khachemoune A
Am J Clin Dermatol 2010;11(2):117-22. doi: 10.2165/11311180-000000000-00000. PMID: 20141232
Hereditary colorectal cancer: risk assessment and management.
Hampel H, Peltomaki P
Clin Genet 2000 Aug;58(2):89-97. doi: 10.1034/j.1399-0004.2000.580201.x. PMID: 11005140

Recent clinical studies

Etiology

Treatment options for molecular subtypes of endometrial cancer in 2023.
Karpel HC, Slomovitz B, Coleman RL, Pothuri B
Curr Opin Obstet Gynecol 2023 Jun 1;35(3):270-278. Epub 2023 Mar 20 doi: 10.1097/GCO.0000000000000855. PMID: 36943683
Biomarker-driven therapy in endometrial cancer.
Karpel H, Slomovitz B, Coleman RL, Pothuri B
Int J Gynecol Cancer 2023 Mar 6;33(3):343-350. doi: 10.1136/ijgc-2022-003676. PMID: 36878569
Deficient mismatch repair/microsatellite unstable colorectal cancer: Diagnosis, prognosis and treatment.
Taieb J, Svrcek M, Cohen R, Basile D, Tougeron D, Phelip JM
Eur J Cancer 2022 Nov;175:136-157. Epub 2022 Sep 14 doi: 10.1016/j.ejca.2022.07.020. PMID: 36115290
Pembrolizumab in Microsatellite-Instability-High Advanced Colorectal Cancer.
André T, Shiu KK, Kim TW, Jensen BV, Jensen LH, Punt C, Smith D, Garcia-Carbonero R, Benavides M, Gibbs P, de la Fouchardiere C, Rivera F, Elez E, Bendell J, Le DT, Yoshino T, Van Cutsem E, Yang P, Farooqui MZH, Marinello P, Diaz LA Jr; KEYNOTE-177 Investigators
N Engl J Med 2020 Dec 3;383(23):2207-2218. doi: 10.1056/NEJMoa2017699. PMID: 33264544
Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations.
Dinarvand P, Davaro EP, Doan JV, Ising ME, Evans NR, Phillips NJ, Lai J, Guzman MA
Arch Pathol Lab Med 2019 Nov;143(11):1382-1398. Epub 2019 May 9 doi: 10.5858/arpa.2018-0570-RA. PMID: 31070935

Diagnosis

Deficient mismatch repair/microsatellite unstable colorectal cancer: Diagnosis, prognosis and treatment.
Taieb J, Svrcek M, Cohen R, Basile D, Tougeron D, Phelip JM
Eur J Cancer 2022 Nov;175:136-157. Epub 2022 Sep 14 doi: 10.1016/j.ejca.2022.07.020. PMID: 36115290
Mismatch repair deficiency: The what, how and why it is important.
Olave MC, Graham RP
Genes Chromosomes Cancer 2022 Jun;61(6):314-321. Epub 2021 Dec 9 doi: 10.1002/gcc.23015. PMID: 34837268
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group.
Aronson M, Colas C, Shuen A, Hampel H, Foulkes WD, Baris Feldman H, Goldberg Y, Muleris M, Wolfe Schneider K, McGee RB, Jasperson K, Rangaswami A, Brugieres L, Tabori U
J Med Genet 2022 Apr;59(4):318-327. Epub 2021 Feb 23 doi: 10.1136/jmedgenet-2020-107627. PMID: 33622763
Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations.
Dinarvand P, Davaro EP, Doan JV, Ising ME, Evans NR, Phillips NJ, Lai J, Guzman MA
Arch Pathol Lab Med 2019 Nov;143(11):1382-1398. Epub 2019 May 9 doi: 10.5858/arpa.2018-0570-RA. PMID: 31070935
Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade.
Le DT, Durham JN, Smith KN, Wang H, Bartlett BR, Aulakh LK, Lu S, Kemberling H, Wilt C, Luber BS, Wong F, Azad NS, Rucki AA, Laheru D, Donehower R, Zaheer A, Fisher GA, Crocenzi TS, Lee JJ, Greten TF, Duffy AG, Ciombor KK, Eyring AD, Lam BH, Joe A, Kang SP, Holdhoff M, Danilova L, Cope L, Meyer C, Zhou S, Goldberg RM, Armstrong DK, Bever KM, Fader AN, Taube J, Housseau F, Spetzler D, Xiao N, Pardoll DM, Papadopoulos N, Kinzler KW, Eshleman JR, Vogelstein B, Anders RA, Diaz LA Jr
Science 2017 Jul 28;357(6349):409-413. Epub 2017 Jun 8 doi: 10.1126/science.aan6733. PMID: 28596308Free PMC Article

Therapy

Biomarker-driven therapy in endometrial cancer.
Karpel H, Slomovitz B, Coleman RL, Pothuri B
Int J Gynecol Cancer 2023 Mar 6;33(3):343-350. doi: 10.1136/ijgc-2022-003676. PMID: 36878569
Immune checkpoint blockades in gynecological cancers: A review of clinical trials.
Peng H, He X, Wang Q
Acta Obstet Gynecol Scand 2022 Sep;101(9):941-951. Epub 2022 Jun 25 doi: 10.1111/aogs.14412. PMID: 35751489Free PMC Article
Pembrolizumab in Microsatellite-Instability-High Advanced Colorectal Cancer.
André T, Shiu KK, Kim TW, Jensen BV, Jensen LH, Punt C, Smith D, Garcia-Carbonero R, Benavides M, Gibbs P, de la Fouchardiere C, Rivera F, Elez E, Bendell J, Le DT, Yoshino T, Van Cutsem E, Yang P, Farooqui MZH, Marinello P, Diaz LA Jr; KEYNOTE-177 Investigators
N Engl J Med 2020 Dec 3;383(23):2207-2218. doi: 10.1056/NEJMoa2017699. PMID: 33264544
Immunotherapy, Inflammation and Colorectal Cancer.
Lichtenstern CR, Ngu RK, Shalapour S, Karin M
Cells 2020 Mar 4;9(3) doi: 10.3390/cells9030618. PMID: 32143413Free PMC Article
Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade.
Le DT, Durham JN, Smith KN, Wang H, Bartlett BR, Aulakh LK, Lu S, Kemberling H, Wilt C, Luber BS, Wong F, Azad NS, Rucki AA, Laheru D, Donehower R, Zaheer A, Fisher GA, Crocenzi TS, Lee JJ, Greten TF, Duffy AG, Ciombor KK, Eyring AD, Lam BH, Joe A, Kang SP, Holdhoff M, Danilova L, Cope L, Meyer C, Zhou S, Goldberg RM, Armstrong DK, Bever KM, Fader AN, Taube J, Housseau F, Spetzler D, Xiao N, Pardoll DM, Papadopoulos N, Kinzler KW, Eshleman JR, Vogelstein B, Anders RA, Diaz LA Jr
Science 2017 Jul 28;357(6349):409-413. Epub 2017 Jun 8 doi: 10.1126/science.aan6733. PMID: 28596308Free PMC Article

Prognosis

Biomarker-driven therapy in endometrial cancer.
Karpel H, Slomovitz B, Coleman RL, Pothuri B
Int J Gynecol Cancer 2023 Mar 6;33(3):343-350. doi: 10.1136/ijgc-2022-003676. PMID: 36878569
Deficient mismatch repair/microsatellite unstable colorectal cancer: Diagnosis, prognosis and treatment.
Taieb J, Svrcek M, Cohen R, Basile D, Tougeron D, Phelip JM
Eur J Cancer 2022 Nov;175:136-157. Epub 2022 Sep 14 doi: 10.1016/j.ejca.2022.07.020. PMID: 36115290
Mismatch repair deficiency: The what, how and why it is important.
Olave MC, Graham RP
Genes Chromosomes Cancer 2022 Jun;61(6):314-321. Epub 2021 Dec 9 doi: 10.1002/gcc.23015. PMID: 34837268
Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations.
Dinarvand P, Davaro EP, Doan JV, Ising ME, Evans NR, Phillips NJ, Lai J, Guzman MA
Arch Pathol Lab Med 2019 Nov;143(11):1382-1398. Epub 2019 May 9 doi: 10.5858/arpa.2018-0570-RA. PMID: 31070935
Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade.
Le DT, Durham JN, Smith KN, Wang H, Bartlett BR, Aulakh LK, Lu S, Kemberling H, Wilt C, Luber BS, Wong F, Azad NS, Rucki AA, Laheru D, Donehower R, Zaheer A, Fisher GA, Crocenzi TS, Lee JJ, Greten TF, Duffy AG, Ciombor KK, Eyring AD, Lam BH, Joe A, Kang SP, Holdhoff M, Danilova L, Cope L, Meyer C, Zhou S, Goldberg RM, Armstrong DK, Bever KM, Fader AN, Taube J, Housseau F, Spetzler D, Xiao N, Pardoll DM, Papadopoulos N, Kinzler KW, Eshleman JR, Vogelstein B, Anders RA, Diaz LA Jr
Science 2017 Jul 28;357(6349):409-413. Epub 2017 Jun 8 doi: 10.1126/science.aan6733. PMID: 28596308Free PMC Article

Clinical prediction guides

γδ T cells are effectors of immunotherapy in cancers with HLA class I defects.
de Vries NL, van de Haar J, Veninga V, Chalabi M, Ijsselsteijn ME, van der Ploeg M, van den Bulk J, Ruano D, van den Berg JG, Haanen JB, Zeverijn LJ, Geurts BS, de Wit GF, Battaglia TW, Gelderblom H, Verheul HMW, Schumacher TN, Wessels LFA, Koning F, de Miranda NFCC, Voest EE
Nature 2023 Jan;613(7945):743-750. Epub 2023 Jan 11 doi: 10.1038/s41586-022-05593-1. PMID: 36631610Free PMC Article
Deficient mismatch repair/microsatellite unstable colorectal cancer: Diagnosis, prognosis and treatment.
Taieb J, Svrcek M, Cohen R, Basile D, Tougeron D, Phelip JM
Eur J Cancer 2022 Nov;175:136-157. Epub 2022 Sep 14 doi: 10.1016/j.ejca.2022.07.020. PMID: 36115290
Mismatch repair deficiency: The what, how and why it is important.
Olave MC, Graham RP
Genes Chromosomes Cancer 2022 Jun;61(6):314-321. Epub 2021 Dec 9 doi: 10.1002/gcc.23015. PMID: 34837268
Pembrolizumab in Microsatellite-Instability-High Advanced Colorectal Cancer.
André T, Shiu KK, Kim TW, Jensen BV, Jensen LH, Punt C, Smith D, Garcia-Carbonero R, Benavides M, Gibbs P, de la Fouchardiere C, Rivera F, Elez E, Bendell J, Le DT, Yoshino T, Van Cutsem E, Yang P, Farooqui MZH, Marinello P, Diaz LA Jr; KEYNOTE-177 Investigators
N Engl J Med 2020 Dec 3;383(23):2207-2218. doi: 10.1056/NEJMoa2017699. PMID: 33264544
Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade.
Le DT, Durham JN, Smith KN, Wang H, Bartlett BR, Aulakh LK, Lu S, Kemberling H, Wilt C, Luber BS, Wong F, Azad NS, Rucki AA, Laheru D, Donehower R, Zaheer A, Fisher GA, Crocenzi TS, Lee JJ, Greten TF, Duffy AG, Ciombor KK, Eyring AD, Lam BH, Joe A, Kang SP, Holdhoff M, Danilova L, Cope L, Meyer C, Zhou S, Goldberg RM, Armstrong DK, Bever KM, Fader AN, Taube J, Housseau F, Spetzler D, Xiao N, Pardoll DM, Papadopoulos N, Kinzler KW, Eshleman JR, Vogelstein B, Anders RA, Diaz LA Jr
Science 2017 Jul 28;357(6349):409-413. Epub 2017 Jun 8 doi: 10.1126/science.aan6733. PMID: 28596308Free PMC Article

Recent systematic reviews

Clinical presentation and outcome of patients with enteric-type adenocarcinoma of the lung: A pooled analysis of published cases.
Fassi E, Mandruzzato M, Zamparini M, Bianchi S, Petrelli F, Baggi A, Alberti A, Grisanti S, Berruti A
Lung Cancer 2023 May;179:107176. Epub 2023 Mar 22 doi: 10.1016/j.lungcan.2023.107176. PMID: 37015149
Mismatch-repair deficiency, microsatellite instability, and lynch syndrome in ovarian cancer: A systematic review and meta-analysis.
Mitric C, Salman L, Abrahamyan L, Kim SR, Pechlivanoglou P, Chan KKW, Gien LT, Ferguson SE
Gynecol Oncol 2023 Mar;170:133-142. Epub 2023 Jan 20 doi: 10.1016/j.ygyno.2022.12.008. PMID: 36682091
Unexplained mismatch repair deficiency: Case closed.
Eikenboom EL, Moen S, van Leeuwen L, Geurts-Giele WRR, Tops CMJ, van Ham TJ, Dinjens WNM, Dubbink HJ, Spaander MCW, Wagner A
HGG Adv 2023 Jan 12;4(1):100167. Epub 2022 Dec 14 doi: 10.1016/j.xhgg.2022.100167. PMID: 36624813Free PMC Article
The prevalence of mismatch repair deficiency in ovarian cancer: A systematic review and meta-analysis.
Atwal A, Snowsill T, Dandy MC, Krum T, Newton C, Evans DG, Crosbie EJ, Ryan NAJ
Int J Cancer 2022 Nov 1;151(9):1626-1639. Epub 2022 Jul 6 doi: 10.1002/ijc.34165. PMID: 35792468Free PMC Article
Adjuvant Therapy for Stage II Colon Cancer: ASCO Guideline Update.
Baxter NN, Kennedy EB, Bergsland E, Berlin J, George TJ, Gill S, Gold PJ, Hantel A, Jones L, Lieu C, Mahmoud N, Morris AM, Ruiz-Garcia E, You YN, Meyerhardt JA
J Clin Oncol 2022 Mar 10;40(8):892-910. Epub 2021 Dec 22 doi: 10.1200/JCO.21.02538. PMID: 34936379

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